Linked Data
dbSNP Id:
rs1553616289
gnomAD v2:
2-219677436-C-CGAT
gnomAD v3:
2-218812713-C-CGAT
gnomAD v4:
2-218812713-C-CGAT
MyVariant Identifiers:
chr2:g.219677436_219677437insGAT (hg19)
chr2:g.218812713_218812714insGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812714_218812716dup , CM000664.2:g.218812714_218812716dup | GRCh38 |
| NC_000002.11:g.219677437_219677439dup , CM000664.1:g.219677437_219677439dup | GRCh37 |
| NC_000002.10:g.219385681_219385683dup | NCBI36 |
| NG_007959.1:g.35966_35968dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.809_811dup MANE Select | ENSP00000258415.4:p.Tyr271Ter | |
| ENST00000258415.8:c.809_811dup | ENSP00000258415.4:p.Tyr271Ter | |
| ENST00000411688.1:c.527_529dup | ENSP00000392671.1:p.Tyr177Ter | |
| ENST00000445971.1:c.*270_*272dup | ENSP00000404945.1:n.*270_*272dup | |
| ENST00000466602.1:n.757_759dup | ||
| ENST00000494263.5:n.1243_1245dup | ||
| NM_000784.3:c.809_811dup | NP_000775.1:p.Tyr271Ter | |
| XM_017003488.2:c.389_391dup | XP_016858977.1:p.Tyr131Ter | |
| NM_000784.4:c.809_811dup MANE Select | NP_000775.1:p.Tyr271Ter |